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Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti : A case report, literature review and insight into pathogenesis

Kaczala, Gregor ; Messer, Manuela ; Poskitt, Ken ; Prendiville, Juliette ; Gardiner, Jane ; Senger, Christof

In: European Journal of Pediatrics, 2008, vol. 167, no. 9, p. 979-983

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    Titre
    • Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti
      A case report, literature review and insight into pathogenesis
    Auteur
    • Kaczala, Gregor. Department of Neonatology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada
    • Messer, Manuela. Department of Neonatology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada
    • Poskitt, Ken. Department of Radiology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada
    • Prendiville, Juliette. Department of Dermatology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada
    • Gardiner, Jane. Department of Ophthalmology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada
    • Senger, Christof. Department of Pathology, Children's and Women's Health Center of British Columbia, Vancouver, BC, Canada
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • European Journal of Pediatrics, 2008, vol. 167, no. 9, p. 979-983. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:314594
    Summary
    Case presentation: A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21hours and empiric anticonvulsive and antimicrobial treatment was started. At 25hours, first vesicles appeared. While routine evaluations remained normal, a head CT revealed multifocal ischemic injuries, and a later MRI showed multifocal petechiae and diffusion abnormalities in the corticospinal tracts. The clinical diagnosis of incontinentia pigmenti (stage 1) was secured by histopathology. Follow-up at 13months showed global developmental delay. Discussion: We discuss the unusually early bilateral, fronto-occipital corticomedullar ischemias (CT day 3). On the MR imaging (day 7) extensive symmetric cerebral corticomedullar destruction and diffusion sequences with corticospinal tracts abnormalities are seen, which then evolve (day 26) to extensive symmetric cerebral destruction. We review the literature, genetics, suspected pathophysiology and possible neonatal manifestation. Conclusion: Incontinentia pigmenti is rare and, therefore, diagnosis is frequently delayed. Nevertheless, in the setting of therapy refractory seizures, excluded infections, and linear vesicular rash, a high index of suspicion is needed. This is the first report of simultaneous corticomedullar involvement as early as the third day of life